Hematologic DiseaseNCT06843291
UNIVERSAL GENETIC TESTING OF PATIENTS WITH HEMATOLOGICAL MALIGNANCIES (UGT)
A study testing Genetic Testing for hematological malignancies in people with Hematologic Disease, run by Augusta University.
Trial summary
We propose to perform NGS and OGM with DNA extracted from bone marrow (BM; site of cancer) and NGS on skin fibroblast DNA (proxy for germline) on all patients with hematologic malignancies (HM) who undergo a standard-of-care BM biopsy at Georgia Cancer Center/Wellstar MCG Health. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hematologic Disease
- What is being tested?
- Genetic Testing for hematological malignancies
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- No sites listed yet
- Study dates
- Feb 2025to Feb 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- a. Age ≥ 18 years of age. b. A new diagnosis of HM. c. Diagnostic bone marrow to be performed at Wellstar MCG Health/Georgia Cancer Center.
- Ability and willingness to provide informed consent in English to undergo skin biopsy for fibroblast culture and NGS for comparison with the BM NGS.
Who cannot join
- There are no exclusion criteria.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
We propose to perform NGS and OGM with DNA extracted from bone marrow (BM; site of cancer) and NGS on skin fibroblast DNA (proxy for germline) on all patients with hematologic malignancies (HM) who undergo a standard-of-care BM biopsy at Georgia Cancer Center/Wellstar MCG Health. Simultaneous 4 mm punch skin biopsy for fibroblast culture will be obtained at the planned puncture site of the BM biopsy. The bone marrow biopsy and aspirate are already part of the patient's scheduled medical evaluation and the punch biopsy of the skin is the only additional procedure involved in the study.
Read the detailed description
Genetic data is transforming the understanding and management of cancers of all types.
The detection of pathogenic germline genetic variants (mutations) underlying the formation of cancer is important because the genetic information can inform optimal treatment for individuals with cancer and can be used to modify cancer risk in family members who are carriers for the variant but who have not developed cancer. Germline next generation sequencing (NGS) has only recently begun to be used to assess for hereditary risk in hematological malignancies (HM), and in particular beyond myeloid HMs. NGS detects small genetics changes such single base substitutions and small deletions, whereas a new technique called optical genome mapping (OGM) is able to detect large structural genetic changes in tumor DNA. OGM is well established here in Molecular Pathology but has only recently been applied to the study of HMs.
We propose to perform NGS and OGM with DNA extracted from bone marrow (BM; site of cancer) and NGS on skin fibroblast DNA (proxy for germline) on all patients with hematologic malignancies (HM) who undergo a standard-of-care BM biopsy at Georgia Cancer Center/Wellstar MCG Health. Simultaneous 4 mm punch skin biopsy for fibroblast culture will be obtained at the planned puncture site of the BM biopsy. The bone marrow biopsy and aspirate are already part of the patient's scheduled medical evaluation and the punch biopsy of the skin is the only additional procedure involved in the study. We will compare BM and germline variants in order to determine their rate and concordance, examine the percent of germline variants that are likely to be the cause of the HM, assess the impact of the germline finding on treatment choices, and determine the impact of germline findings on family members. New data from OGM will be compared to NGS
- Conditions
- Hematologic Disease
- Being tested
- Genetic Testing for hematological malignancies
- Keywords
- Genetic testing, hematological malignancies
- Medical subject headings
- Hematologic Diseases, Hematologic Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic Testing for hematological malignanciesGenetic
combined skin punch biopsy/BM aspiration technique, followed by NGS and OGM.
| Study group | Role | What they receive |
|---|---|---|
| genetic testing for hematological malignancies | Experimental | Single arm study for patients with hematological malignancies who agree to genetic testing. Receives: Genetic: Genetic Testing for hematological malignancies |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of all patients with hematological malignancies who agree to undergo genetic testing
The primary endpoint will be the percentage of all patients with newly diagnosed HMs who undergo BM/fibroblast DNA NGS testing.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Feb 2025
- Study startFeb 2025 (estimated)
- Primary completionFeb 2029 (estimated)
- Study completionFeb 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hematologic DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Augusta University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- John Henson, MD, Principal investigator, Medical College of Georgia at Augusta University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06843291
- Sponsor's protocol ID
- 2218223
- Status last verified
- Feb 2025
- First submitted
- 20 Feb 2025
- Last updated
- 24 Feb 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- UNIVERSAL GENETIC TESTING OF PATIENTS WITH HEMATOLOGICAL MALIGNANCIES (UGT)
- ClinicalTrials.gov ID
- NCT06843291
- Acronym / sponsor ID
- 2218223
- Conditions
- Hematologic Disease
- Keywords
- Genetic testing, hematological malignancies
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Augusta UniversityUniversity, hospital or other
- Study start
- Feb 2025 (estimated)
- Primary completion
- Feb 2029 (estimated)
- Study completion
- Feb 2029 (estimated)
- First posted
- 24 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
We propose to perform NGS and OGM with DNA extracted from bone marrow (BM; site of cancer) and NGS on skin fibroblast DNA (proxy for germline) on all patients with hematologic malignancies (HM) who undergo a standard-of-care BM biopsy at Georgia Cancer Center/Wellstar MCG Health. Simultaneous 4 mm punch skin biopsy for fibroblast culture will be obtained at the planned puncture site of the BM biopsy. The bone marrow biopsy and aspirate are already part of the patient's scheduled medical evaluation and the punch biopsy of the skin is the only additional procedure involved in the study.
Detailed description
Genetic data is transforming the understanding and management of cancers of all types.
The detection of pathogenic germline genetic variants (mutations) underlying the formation of cancer is important because the genetic information can inform optimal treatment for individuals with cancer and can be used to modify cancer risk in family members who are carriers for the variant but who have not developed cancer. Germline next generation sequencing (NGS) has only recently begun to be used to assess for hereditary risk in hematological malignancies (HM), and in particular beyond myeloid HMs. NGS detects small genetics changes such single base substitutions and small deletions, whereas a new technique called optical genome mapping (OGM) is able to detect large structural genetic changes in tumor DNA. OGM is well established here in Molecular Pathology but has only recently been applied to the study of HMs.
We propose to perform NGS and OGM with DNA extracted from bone marrow (BM; site of cancer) and NGS on skin fibroblast DNA (proxy for germline) on all patients with hematologic malignancies (HM) who undergo a standard-of-care BM biopsy at Georgia Cancer Center/Wellstar MCG Health. Simultaneous 4 mm punch skin biopsy for fibroblast culture will be obtained at the planned puncture site of the BM biopsy. The bone marrow biopsy and aspirate are already part of the patient's scheduled medical evaluation and the punch biopsy of the skin is the only additional procedure involved in the study. We will compare BM and germline variants in order to determine their rate and concordance, examine the percent of germline variants that are likely to be the cause of the HM, assess the impact of the germline finding on treatment choices, and determine the impact of germline findings on family members. New data from OGM will be compared to NGS
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| genetic testing for hematological malignancies | Experimental | Genetic: Genetic Testing for hematological malignanciesSingle arm study for patients with hematological malignancies who agree to genetic testing. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- a. Age ≥ 18 years of age. b. A new diagnosis of HM. c. Diagnostic bone marrow to be performed at Wellstar MCG Health/Georgia Cancer Center.
- Ability and willingness to provide informed consent in English to undergo skin biopsy for fibroblast culture and NGS for comparison with the BM NGS.
Key exclusion criteria (1 listed)
- There are no exclusion criteria.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic Testing for hematological malignanciescombined skin punch biopsy/BM aspiration technique, followed by NGS and OGM. | Genetic | genetic testing for hematological malignancies |
Primary outcome
Percentage of all patients with hematological malignancies who agree to undergo genetic testing
Time frame: 5 years
The primary endpoint will be the percentage of all patients with newly diagnosed HMs who undergo BM/fibroblast DNA NGS testing.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Feb 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
John Henson, MD principal investigator
Medical College of Georgia at Augusta University
Questions about this trial
What is this clinical trial studying?
A study testing Genetic Testing for hematological malignancies in people with Hematologic Disease, run by Augusta University.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 24 Feb 2025. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact James T Sonnenberg, BS (9106192597, JSONNENBERG@AUGUSTA.EDU), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Percentage of all patients with hematological malignancies who agree to undergo genetic testing (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Feb 2025.